A5048719411- Pancreatic function and diabetes
- Regulation of Appetite and Obesity
- Thyroid Disorders and Treatments
- Biochemical Analysis and Sensing Techniques
- Hypothalamic control of reproductive hormones
- Growth Hormone and Insulin-like Growth Factors
- Metabolism, Diabetes, and Cancer
- Hormonal and reproductive studies
- RNA modifications and cancer
- Lipoproteins and Cardiovascular Health
- Eating Disorders and Behaviors
- Cancer, Lipids, and Metabolism
- Endoplasmic Reticulum Stress and Disease
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Genetics and Neurodevelopmental Disorders
- Stress Responses and Cortisol
- Diabetes Treatment and Management
- Genetic factors in colorectal cancer
- melanin and skin pigmentation
- Nutritional Studies and Diet
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Health, Environment, Cognitive Aging
- Diet and metabolism studies
- Chronic Lymphocytic Leukemia Research
- Epigenetics and DNA Methylation
Institute of Experimental Endocrinology of the Slovak Academy of Sciences
2015-2023
Slovak Academy of Sciences
2015-2023
Comenius University Bratislava
2013-2023
Leipzig University
2017-2019
Journal Article Cohort Profile: The LIFE-Adult-Study Get access Christoph Engel, Engel Institute for Medical Informatics, Statistics and Epidemiology, Leipzig University, Leipzig, GermanyLeipzig Research Centre Civilization Diseases, Germany Corresponding author. Haertelstrasse 16–18, 04107 Germany. E-mail: christoph.engel@imise.uni-leipzig.de https://orcid.org/0000-0002-7247-282X Search other works by this author on: Oxford Academic PubMed Google Scholar Kerstin Wirkner, Wirkner Samira...
Impairment of translation initiation and its regulation within the integrated stress response (ISR) related unfolded-protein has been identified as a cause several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unknown, to this group disorders. is rare X-linked syndrome characterized by profound intellectual disability, epilepsy, hypogonadism hypogenitalism, microcephaly, obesity. We have C-terminal frameshift mutation (Ile465Serfs) in EIF2S3 gene three...
Abstract Accumulating evidence supports a link between depression and being overweight in women. Given previously reported sex differences fat accumulation prevalence, as well the likely role of hormones both mood disorders, we hypothesised that depression-overweight association may be mediated by hormones. To this end, investigated with depression, then considered relation to large population-based cohort. We included total 3124 women, 970 premenopausal 2154 postmenopausal from LIFE-Adult...
Recently, the genetic cause of several syndromic forms glycemia dysregulation has been described. One them, MEHMO syndrome, is a rare X-linked syndrome recently linked to EIF2S3 gene mutations. characterized by Mental retardation, Epilepsy, Hypogonadism/hypogenitalism, Microcephaly, and Obesity. Moreover, patients with had also diabetes endocrine phenotype, but detailed information missing. We aimed provide more details on phenotype in two previously reported male probands carrying...
Background: Several studies have shown a positive association between anxiety and obesity, particularly in women. We aimed to study whether sex hormone alterations related obesity might play role this association. Patients methods: Data for were obtained from population-based cohort (the LIFE-Adult-Study). A total of 3,124 adult women (970 premenopausal 2,154 postmenopausal) included into the analyses. The symptomatology was assessed using GAD-7 questionnaire (cut-off ≥ 10 points). Sex...
Glucokinase (GCK) diabetes is a mild form of the monogenic characterized by fasting hyperglycemia without signs metabolic syndrome and very low risk for chronic complications diabetes. For Type 2 (T2D), with high micro- macro-vascular are typical. The prevalence GCK-diabetes estimated from 0.5 to 1% in diabetic patients. T2D most prevalent type (it encompasses more than 85% all patients). According epidemiology, coincidence these two subtypes may occur; nevertheless no case reports on above...
An elevated thyroid stimulating hormone (TSH) level is a frequent finding in obese children, but its association with peripheral metabolism not fully understood. We hypothesized that obesity, the changes tissues might lead to dysregulation axis. The purpose of this study was investigate TSH hormones group children as compared normal-weight controls.Serum TSH, free thyroxine (fT4) and triiodothyronine (fT3) levels were measured 101 40 controls. Serum reverse T3 (rT3) also subgroup 51 15...
Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations. Therefore, the aim of our study was to examine genetic background Slovak patients suspected FH. Patients with clinical suspicion FH (235 unrelated probands and 124 family relatives) were recruited throughout Slovakia during years 2011-2015. The order DNA analyses in as follows: 1. mutation p.Arg3527Gln real-time PCR method, 2. direct sequencing gene 3. MLPA analysis gene. We have identified 14 2 relatives...
Impairment of translation initiation and its regulation within the integrated stress response (ISR) related unfolded-protein has been identified as a cause several multi-systemic syndromes.Here we link MEHMO syndrome, whose genetic etiology was unknown, to this group disorders.MEHMO is rare X-linked syndrome characterized by profound intellectual disability, epilepsy, hypogonadism, hypogenitalism, microcephaly, obesity.We have C-terminal frameshift mutation (Ile465Serfs) in EIF2S3 gene three...
The mutations in gene for the melanocortin-4 receptor (MC4R) are most common etiology factors of monogenic obesity development. Recently, it has been shown that current life style a significant impact on phenotype MC4R mutation carriers - increases penetrance mutations. We aimed to study age time onset among carriers.DNA analysis was performed 268 unrelated Slovak and Moravian obese children adolescents 18 years 28 blood relatives >18 probands with mutation.Three different previously...
The most common etiology of non-syndromic monogenic obesity are mutations in gene for the Melanocortin-4 receptor (MC485) with variable prevalence different countries (1.2-6.3 % obese children). aim our study was 1) to search MC4R children Slovakia and compare their other European countries, 2) describe phenotype mutation carriers. DNA analysis by direct Sanger sequencing coding exons intron/exon boundaries performed 268 unrelated Slovak adolescents body mass index above 97th percentile age...
Background Thyroid hormones play an important role in energy metabolism and weight control, explained mostly by inducing thermogenesis increasing basal metabolic rate. It has recently been shown that FT4 levels are associated with food preferences, which might also a modulating body weight. The aim of this longitudinal follow-up study was to analyze the relationship thyroid (FT4, TSH) at baseline weight/BMI-SDS changes children adolescents obesity. Methods Three hundred seventy-seven have...
Inactivating mutations of the hypothalamic transcription factor singleminded1 (SIM1) have been shown as a cause early-onset severe obesity. However, to date, contribution SIM1 obesity phenotype has only studied in few populations. In this study, we screened functional regions severely obese children Slovak and Moravian descent determine if genetic variants within may influence development these populations.The promoter region, exons exon-intron boundaries were sequenced 126 unrelated...
Background Thyroid hormones profoundly affect energy metabolism but their interrelation with food preference, which might contribute to childhood obesity development, are much less understood. In this study, we investigated if thyroid hormone levels associated specific modulation of preference and potentially linked the level in children adolescents. Methods Interrelations between peripheral activity were examined a population 99 non-obese 101 obese adolescents (12.8 ± 3.6 years age, 111/89...
Recently, the genetic cause of several syndromic forms glycemia dysregulation has been described. One them, MEHMO syndrome, is a rare X-linked syndrome recently linked to EIF2S3 gene mutations. characterized by Mental retardation, Epilepsy, Hypogonadism/hypogenitalism, Microcephaly, and Obesity. Moreover, patients with had also diabetes endocrine phenotype, but detailed information missing. We aimed provide more details on phenotype in two previously reported male probands carrying...
MEHMO syndrome is a rare X-linked characterized by Mental retardation, Epilepsy, Hypogenitalism, Microcephaly, and Obesity associated with the defect of protein synthesis caused EIF2S3 gene mutations. We hypothesized that in could have an impact on immune system. describe immunologic phenotype possible treatment outcomes patient carrying frame-shift mutation (I465fs) gene. The proband (currently 9-year-old boy) had normal IgG IgM levels, but frequent respiratory urinary tract infections. On...
Súhrn: Bolesti brucha patria medzi pomerne časté symptómy u adolescentov. Príčiny, ktoré sa podieľajú na bolestiach brucha, sú pestré a tým aj diferenciálna diagnostika je rozsiahla zložitá. To súvisí pravdepodobne s tým, že brucho zaberá veľkú oblasť, obsahuje množstvo orgánov, štruktúr, systémov vrátane lymfatických uzlín, generalizovane reagujú infekciu, či nádorové ochorenia. V našej kazuistike opisujeme prípad 17-ročného pacienta náhlymi bolesťami chudnutím, vracaním ikterom. rámci...